Gene: COA8 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777784
rs587777784
KLC1 ; COA8
1 1.000 0.080 14 103571695 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs587777785
rs587777785
KLC1 ; COA8
1 1.000 0.080 14 103571622 splice acceptor variant G/A snv 0.700 0
dbSNP: rs587777786
rs587777786
KLC1 ; COA8
1 1.000 0.080 14 103571813 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs587777787
rs587777787
KLC1 ; COA8
1 1.000 0.080 14 103574111 inframe deletion GAA/- delins 0.700 0